CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia

Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2006-12, Vol.141B (8), p.944-946
Main Authors: Rizzu, Patrizia, van Mil, Saskia E., Anar, Burcu, Rosso, Sonia M., Kaat, Laura Donker, Heutink, Peter, van Swieten, John C.
Format: Article
Language:English
Subjects:
Adult and adolescent clinical studies
Biological and medical sciences
CHMP2B
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dementia - genetics
DNA Mutational Analysis
Endosomal Sorting Complexes Required for Transport
Female
frontotemporal dementia
Gene Frequency
Humans
Male
MAPT
Medical sciences
Middle Aged
Mutation - genetics
mutation frequency
Nerve Tissue Proteins - genetics
Netherlands
Neurology
Organic mental disorders. Neuropsychology
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
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Summary:Mutations in the CHMP2B gene have been recently identified in a large Danish pedigree with autosomal dominant frontotemporal dementia (FTD) linked to chromosome 3 (FTD3). We report the frequency of CHMP2B mutations in 162 FTD patients recruited from a large population‐based study of FTD carried out in The Netherlands. Our results suggest that mutations in CHMP2B are a rare cause of FTD as compared to MAPT mutations. © 2006 Wiley‐Liss, Inc.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.30410